I143T (p.Ile143Thr) variant of RAD21 (O60216)
I143T (p.Ile143Thr) in RAD21 (O60216) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided.
I143T (p.Ile143Thr) variant details
- p.Ile143Thr
- rs1382274750
- ClinGen CA372007993
- ClinVar RCV001091703
- gnomAD rs1382274750
- Likely pathogenic
- not provided
- Missense
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic